Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 264165 single nucleotide variant NM_133330.2(NSD2):c.2935C>T (p.Arg979Ter) 548600548 MedGen:CN221809 4 1959713 1959713 C T 264165 single nucleotide variant NM_133330.2(NSD2):c.2935C>T (p.Arg979Ter) 548600548 MedGen:CN221809 4 1957986 1957986 C T 293096 duplication NM_133330.2(NSD2):c.-384-5dupT 886059308 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1893725 1893725 T TT 293096 duplication NM_133330.2(NSD2):c.-384-5dupT 886059308 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1895452 1895452 T TT 293098 single nucleotide variant NM_133330.2(NSD2):c.-145C>T 569542496 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1899280 1899280 C T 293098 single nucleotide variant NM_133330.2(NSD2):c.-145C>T 569542496 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1901007 1901007 C T 293099 single nucleotide variant NM_133330.2(NSD2):c.-119G>A 550551908 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1901033 1901033 G A 293099 single nucleotide variant NM_133330.2(NSD2):c.-119G>A 550551908 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1899306 1899306 G A 293100 single nucleotide variant NM_133330.2(NSD2):c.-59A>G 147609440 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1901093 1901093 A G 293100 single nucleotide variant NM_133330.2(NSD2):c.-59A>G 147609440 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1899366 1899366 A G 293107 single nucleotide variant NM_133330.2(NSD2):c.-43G>A 116056077 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1901109 1901109 G A 293107 single nucleotide variant NM_133330.2(NSD2):c.-43G>A 116056077 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1899382 1899382 G A 293110 single nucleotide variant NM_133330.2(NSD2):c.114C>T (p.Cys38=) 759922625 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1902495 1902495 C T 293110 single nucleotide variant NM_133330.2(NSD2):c.114C>T (p.Cys38=) 759922625 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1900768 1900768 C T 293115 single nucleotide variant NM_133330.2(NSD2):c.198C>T (p.Asn66=) 140040537 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1902579 1902579 C T 293115 single nucleotide variant NM_133330.2(NSD2):c.198C>T (p.Asn66=) 140040537 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1900852 1900852 C T 293117 single nucleotide variant NM_133330.2(NSD2):c.199G>A (p.Gly67Ser) 202235551 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1902580 1902580 G A 293117 single nucleotide variant NM_133330.2(NSD2):c.199G>A (p.Gly67Ser) 202235551 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1900853 1900853 G A 293124 single nucleotide variant NM_133330.2(NSD2):c.456T>G (p.Ser152=) 886059314 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1902837 1902837 T G 293124 single nucleotide variant NM_133330.2(NSD2):c.456T>G (p.Ser152=) 886059314 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1901110 1901110 T G 293132 single nucleotide variant NM_133330.2(NSD2):c.990A>G (p.Glu330=) 143425918 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1918203 1918203 A G 293132 single nucleotide variant NM_133330.2(NSD2):c.990A>G (p.Glu330=) 143425918 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1919930 1919930 A G 293135 single nucleotide variant NM_133330.2(NSD2):c.1330A>G (p.Thr444Ala) 112014939 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1918543 1918543 A G 293135 single nucleotide variant NM_133330.2(NSD2):c.1330A>G (p.Thr444Ala) 112014939 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1920270 1920270 A G 293136 single nucleotide variant NM_133330.2(NSD2):c.2352G>T (p.Arg784=) 531537433 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1955174 1955174 G T 293136 single nucleotide variant NM_133330.2(NSD2):c.2352G>T (p.Arg784=) 531537433 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1956901 1956901 G T 293143 single nucleotide variant NM_133330.2(NSD2):c.3126C>T (p.His1042=) 886059318 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1959611 1959611 C T 293143 single nucleotide variant NM_133330.2(NSD2):c.3126C>T (p.His1042=) 886059318 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1961338 1961338 C T 293144 single nucleotide variant NM_133330.2(NSD2):c.3495C>T (p.Ala1165=) 73069117 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1974985 1974985 C T 293144 single nucleotide variant NM_133330.2(NSD2):c.3495C>T (p.Ala1165=) 73069117 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1976712 1976712 C T 293145 single nucleotide variant NM_133330.2(NSD2):c.3582A>G (p.Gly1194=) 149284685 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1975361 1975361 A G 293145 single nucleotide variant NM_133330.2(NSD2):c.3582A>G (p.Gly1194=) 149284685 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1977088 1977088 A G 293146 single nucleotide variant NM_133330.2(NSD2):c.*9G>A 373762613 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1978918 1978918 G A 293146 single nucleotide variant NM_133330.2(NSD2):c.*9G>A 373762613 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1980645 1980645 G A 293154 single nucleotide variant NM_133330.2(NSD2):c.*183T>C 192992535 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1979092 1979092 T C 293154 single nucleotide variant NM_133330.2(NSD2):c.*183T>C 192992535 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1980819 1980819 T C 293159 deletion NM_133330.2(NSD2):c.*342_*344delCTC 886059321 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1980978 1980980 CTC - 293159 deletion NM_133330.2(NSD2):c.*342_*344delCTC 886059321 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1979251 1979253 CTC - 293160 single nucleotide variant NM_133330.2(NSD2):c.*593G>T 73202837 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1981229 1981229 G T 293160 single nucleotide variant NM_133330.2(NSD2):c.*593G>T 73202837 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1979502 1979502 G T 293163 single nucleotide variant NM_133330.2(NSD2):c.*620T>A 1132849 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1981256 1981256 T A 293163 single nucleotide variant NM_133330.2(NSD2):c.*620T>A 1132849 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1979529 1979529 T A 293172 single nucleotide variant NM_133330.2(NSD2):c.*661G>A 767998808 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1981297 1981297 G A 293172 single nucleotide variant NM_133330.2(NSD2):c.*661G>A 767998808 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1979570 1979570 G A 293173 single nucleotide variant NM_133330.2(NSD2):c.*745T>C 886059323 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1981381 1981381 T C 293173 single nucleotide variant NM_133330.2(NSD2):c.*745T>C 886059323 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1979654 1979654 T C 293179 single nucleotide variant NM_133330.2(NSD2):c.*969G>A 562124371 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1981605 1981605 G A 293179 single nucleotide variant NM_133330.2(NSD2):c.*969G>A 562124371 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1979878 1979878 G A 293181 single nucleotide variant NM_133330.2(NSD2):c.*986G>A 886059324 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1979895 1979895 G A 293181 single nucleotide variant NM_133330.2(NSD2):c.*986G>A 886059324 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1981622 1981622 G A 293183 single nucleotide variant NM_133330.2(NSD2):c.*1025C>A 548104599 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1981661 1981661 C A 293183 single nucleotide variant NM_133330.2(NSD2):c.*1025C>A 548104599 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1979934 1979934 C A 293184 single nucleotide variant NM_133330.2(NSD2):c.*1085A>T 111668967 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1981721 1981721 A T 293184 single nucleotide variant NM_133330.2(NSD2):c.*1085A>T 111668967 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1979994 1979994 A T 293186 single nucleotide variant NM_133330.2(NSD2):c.*1138G>C 77074637 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1981774 1981774 G C 293186 single nucleotide variant NM_133330.2(NSD2):c.*1138G>C 77074637 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1980047 1980047 G C 293191 single nucleotide variant NM_133330.2(NSD2):c.*1665C>T 539743018 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1980574 1980574 C T 293191 single nucleotide variant NM_133330.2(NSD2):c.*1665C>T 539743018 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1982301 1982301 C T 293192 single nucleotide variant NM_133330.2(NSD2):c.*1686C>T 74372602 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1980595 1980595 C T 293192 single nucleotide variant NM_133330.2(NSD2):c.*1686C>T 74372602 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1982322 1982322 C T 293198 single nucleotide variant NM_133330.2(NSD2):c.*1849C>T 562324621 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1980758 1980758 C T 293198 single nucleotide variant NM_133330.2(NSD2):c.*1849C>T 562324621 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1982485 1982485 C T 293199 single nucleotide variant NM_133330.2(NSD2):c.*1850G>A 765387218 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1980759 1980759 G A 293199 single nucleotide variant NM_133330.2(NSD2):c.*1850G>A 765387218 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1982486 1982486 G A 293204 single nucleotide variant NM_133330.2(NSD2):c.*2094C>T 141972110 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1981003 1981003 C T 293204 single nucleotide variant NM_133330.2(NSD2):c.*2094C>T 141972110 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1982730 1982730 C T 293219 single nucleotide variant NM_133330.2(NSD2):c.*2355G>A 140096622 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1981264 1981264 G A 293219 single nucleotide variant NM_133330.2(NSD2):c.*2355G>A 140096622 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1982991 1982991 G A 293220 single nucleotide variant NM_133330.2(NSD2):c.*2423G>A 886059335 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1981332 1981332 G A 293220 single nucleotide variant NM_133330.2(NSD2):c.*2423G>A 886059335 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1983059 1983059 G A 293226 single nucleotide variant NM_133330.2(NSD2):c.*2634C>T 112691599 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1983270 1983270 C T 293226 single nucleotide variant NM_133330.2(NSD2):c.*2634C>T 112691599 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1981543 1981543 C T 293234 single nucleotide variant NM_133330.2(NSD2):c.*2920A>G 2187692 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1983556 1983556 A G 293234 single nucleotide variant NM_133330.2(NSD2):c.*2920A>G 2187692 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1981829 1981829 A G 293235 deletion NM_133330.2(NSD2):c.*2942_*2945delTGTT 147409255 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1983578 1983581 TGTT - 293235 deletion NM_133330.2(NSD2):c.*2942_*2945delTGTT 147409255 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1981851 1981854 TGTT - 293237 single nucleotide variant NM_133330.2(NSD2):c.*3208A>G 142634124 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1983844 1983844 A G 293237 single nucleotide variant NM_133330.2(NSD2):c.*3208A>G 142634124 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1982117 1982117 A G 294468 single nucleotide variant NM_133330.2(NSD2):c.-434C>G 886059306 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1892842 1892842 C G 294468 single nucleotide variant NM_133330.2(NSD2):c.-434C>G 886059306 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1894569 1894569 C G 294478 single nucleotide variant NM_133330.2(NSD2):c.-402A>C 886059307 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1892874 1892874 A C 294478 single nucleotide variant NM_133330.2(NSD2):c.-402A>C 886059307 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1894601 1894601 A C 294479 single nucleotide variant NM_133330.2(NSD2):c.884A>T (p.Gln295Leu) 144431814 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1916994 1916994 A T 294479 single nucleotide variant NM_133330.2(NSD2):c.884A>T (p.Gln295Leu) 144431814 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1918721 1918721 A T 294481 single nucleotide variant NM_133330.2(NSD2):c.1582C>A (p.His528Asn) 139753036 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1935170 1935170 C A 294481 single nucleotide variant NM_133330.2(NSD2):c.1582C>A (p.His528Asn) 139753036 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1936897 1936897 C A 294487 single nucleotide variant NM_133330.2(NSD2):c.1584C>A (p.His528Gln) 149810908 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1936899 1936899 C A 294487 single nucleotide variant NM_133330.2(NSD2):c.1584C>A (p.His528Gln) 149810908 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1935172 1935172 C A 294511 single nucleotide variant NM_133330.2(NSD2):c.3486C>T (p.Gly1162=) 886059319 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1974976 1974976 C T 294511 single nucleotide variant NM_133330.2(NSD2):c.3486C>T (p.Gly1162=) 886059319 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1976703 1976703 C T 294513 single nucleotide variant NM_133330.2(NSD2):c.3900C>T (p.Pro1300=) 75949599 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1978711 1978711 C T 294513 single nucleotide variant NM_133330.2(NSD2):c.3900C>T (p.Pro1300=) 75949599 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1980438 1980438 C T 294517 single nucleotide variant NM_133330.2(NSD2):c.*167A>G 114883490 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1979076 1979076 A G 294517 single nucleotide variant NM_133330.2(NSD2):c.*167A>G 114883490 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1980803 1980803 A G 294522 single nucleotide variant NM_133330.2(NSD2):c.*620T>G 1132849 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1981256 1981256 T G 294522 single nucleotide variant NM_133330.2(NSD2):c.*620T>G 1132849 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1979529 1979529 T G 294523 single nucleotide variant NM_133330.2(NSD2):c.*731G>A 886059322 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1981367 1981367 G A 294523 single nucleotide variant NM_133330.2(NSD2):c.*731G>A 886059322 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1979640 1979640 G A 294525 duplication NM_133330.2(NSD2):c.*1370dupT 886059325 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1980279 1980279 T TT 294525 duplication NM_133330.2(NSD2):c.*1370dupT 886059325 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1982006 1982006 T TT 294526 single nucleotide variant NM_133330.2(NSD2):c.*1942T>C 780819245 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1982578 1982578 T C 294526 single nucleotide variant NM_133330.2(NSD2):c.*1942T>C 780819245 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1980851 1980851 T C 294527 single nucleotide variant NM_133330.2(NSD2):c.*2003T>G 886059332 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1980912 1980912 T G 294527 single nucleotide variant NM_133330.2(NSD2):c.*2003T>G 886059332 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1982639 1982639 T G 294542 duplication NM_133330.2(NSD2):c.*2012dupG 886059333 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1982648 1982648 G GG 294542 duplication NM_133330.2(NSD2):c.*2012dupG 886059333 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1980921 1980921 G GG 294544 single nucleotide variant NM_133330.2(NSD2):c.*2121C>T 116110889 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1981030 1981030 C T 294544 single nucleotide variant NM_133330.2(NSD2):c.*2121C>T 116110889 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1982757 1982757 C T 294556 single nucleotide variant NM_133330.2(NSD2):c.*2414G>A 886059334 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1981323 1981323 G A 294556 single nucleotide variant NM_133330.2(NSD2):c.*2414G>A 886059334 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1983050 1983050 G A 294558 single nucleotide variant NM_133330.2(NSD2):c.*2733G>C 73796676 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1981642 1981642 G C 294558 single nucleotide variant NM_133330.2(NSD2):c.*2733G>C 73796676 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1983369 1983369 G C 294577 single nucleotide variant NM_133330.2(NSD2):c.*2780G>A 139523257 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1981689 1981689 G A 294577 single nucleotide variant NM_133330.2(NSD2):c.*2780G>A 139523257 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1983416 1983416 G A 294578 single nucleotide variant NM_133330.2(NSD2):c.*3241A>C 569244997 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1983877 1983877 A C 294578 single nucleotide variant NM_133330.2(NSD2):c.*3241A>C 569244997 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1982150 1982150 A C 297980 single nucleotide variant NM_133330.2(NSD2):c.-207G>A 114792920 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1893907 1893907 G A 297980 single nucleotide variant NM_133330.2(NSD2):c.-207G>A 114792920 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1895634 1895634 G A 297975 single nucleotide variant NM_133330.2(NSD2):c.-458C>T 184985997 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1892818 1892818 C T 297975 single nucleotide variant NM_133330.2(NSD2):c.-458C>T 184985997 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1894545 1894545 C T 297976 single nucleotide variant NM_133330.2(NSD2):c.-390T>A 566943306 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1892886 1892886 T A 297976 single nucleotide variant NM_133330.2(NSD2):c.-390T>A 566943306 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1894613 1894613 T A 297979 single nucleotide variant NM_133330.2(NSD2):c.-379A>G 10019502 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1893735 1893735 A G 297979 single nucleotide variant NM_133330.2(NSD2):c.-379A>G 10019502 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1895462 1895462 A G 297988 single nucleotide variant NM_133330.2(NSD2):c.-185G>A 886059312 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1899240 1899240 G A 297988 single nucleotide variant NM_133330.2(NSD2):c.-185G>A 886059312 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1900967 1900967 G A 297989 single nucleotide variant NM_133330.2(NSD2):c.-166C>A 372789667 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1899259 1899259 C A 297989 single nucleotide variant NM_133330.2(NSD2):c.-166C>A 372789667 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1900986 1900986 C A 297993 single nucleotide variant NM_133330.2(NSD2):c.-62T>C 774930051 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1901090 1901090 T C 297993 single nucleotide variant NM_133330.2(NSD2):c.-62T>C 774930051 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1899363 1899363 T C 297994 single nucleotide variant NM_133330.2(NSD2):c.-44C>T 886059313 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1901108 1901108 C T 297994 single nucleotide variant NM_133330.2(NSD2):c.-44C>T 886059313 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1899381 1899381 C T 298001 single nucleotide variant NM_133330.2(NSD2):c.216C>G (p.Pro72=) 112939388 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1902597 1902597 C G 298001 single nucleotide variant NM_133330.2(NSD2):c.216C>G (p.Pro72=) 112939388 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1900870 1900870 C G 298002 single nucleotide variant NM_133330.2(NSD2):c.381A>G (p.Lys127=) 149396950 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1902762 1902762 A G 298002 single nucleotide variant NM_133330.2(NSD2):c.381A>G (p.Lys127=) 149396950 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1901035 1901035 A G 298005 single nucleotide variant NM_133330.2(NSD2):c.546C>A (p.Gly182=) 766214080 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1902927 1902927 C A 298005 single nucleotide variant NM_133330.2(NSD2):c.546C>A (p.Gly182=) 766214080 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1901200 1901200 C A 298008 single nucleotide variant NM_133330.2(NSD2):c.562C>G (p.Leu188Val) 886059315 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1902943 1902943 C G 298008 single nucleotide variant NM_133330.2(NSD2):c.562C>G (p.Leu188Val) 886059315 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1901216 1901216 C G 298016 single nucleotide variant NM_133330.2(NSD2):c.2814G>A (p.Pro938=) 62287053 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1956121 1956121 G A 298016 single nucleotide variant NM_133330.2(NSD2):c.2814G>A (p.Pro938=) 62287053 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1957848 1957848 G A 298018 single nucleotide variant NM_133330.2(NSD2):c.2831G>A (p.Arg944Gln) 756624618 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1956138 1956138 G A 298018 single nucleotide variant NM_133330.2(NSD2):c.2831G>A (p.Arg944Gln) 756624618 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1957865 1957865 G A 298020 single nucleotide variant NM_133330.2(NSD2):c.4023C>T (p.Pro1341=) 149925711 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1978834 1978834 C T 298020 single nucleotide variant NM_133330.2(NSD2):c.4023C>T (p.Pro1341=) 149925711 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1980561 1980561 C T 298021 single nucleotide variant NM_133330.2(NSD2):c.*148C>T 538719785 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1979057 1979057 C T 298021 single nucleotide variant NM_133330.2(NSD2):c.*148C>T 538719785 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1980784 1980784 C T 298023 single nucleotide variant NM_133330.2(NSD2):c.*296A>G 114085362 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1980932 1980932 A G 298023 single nucleotide variant NM_133330.2(NSD2):c.*296A>G 114085362 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1979205 1979205 A G 298025 single nucleotide variant NM_133330.2(NSD2):c.*674A>G 115893772 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1981310 1981310 A G 298025 single nucleotide variant NM_133330.2(NSD2):c.*674A>G 115893772 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1979583 1979583 A G 298026 single nucleotide variant NM_133330.2(NSD2):c.*1458G>C 886059326 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1980367 1980367 G C 298026 single nucleotide variant NM_133330.2(NSD2):c.*1458G>C 886059326 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1982094 1982094 G C 298030 single nucleotide variant NM_133330.2(NSD2):c.*1468G>C 886059327 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1980377 1980377 G C 298030 single nucleotide variant NM_133330.2(NSD2):c.*1468G>C 886059327 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1982104 1982104 G C 298033 duplication NM_133330.2(NSD2):c.*1922dupT 886059331 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1980831 1980831 T TT 298033 duplication NM_133330.2(NSD2):c.*1922dupT 886059331 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1982558 1982558 T TT 298034 single nucleotide variant NM_133330.2(NSD2):c.*2019C>T 10034373 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1980928 1980928 C T 298034 single nucleotide variant NM_133330.2(NSD2):c.*2019C>T 10034373 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1982655 1982655 C T 298038 single nucleotide variant NM_133330.2(NSD2):c.-384-3C>T 886059309 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1893727 1893727 C T 298038 single nucleotide variant NM_133330.2(NSD2):c.-384-3C>T 886059309 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1895454 1895454 C T 298043 single nucleotide variant NM_133330.2(NSD2):c.*2337A>C 146115430 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1981246 1981246 A C 298043 single nucleotide variant NM_133330.2(NSD2):c.*2337A>C 146115430 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1982973 1982973 A C 298044 single nucleotide variant NM_133330.2(NSD2):c.*2847T>G 886059338 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1981756 1981756 T G 298044 single nucleotide variant NM_133330.2(NSD2):c.*2847T>G 886059338 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1983483 1983483 T G 298046 single nucleotide variant NM_133330.2(NSD2):c.-348A>T 886059310 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1893766 1893766 A T 298046 single nucleotide variant NM_133330.2(NSD2):c.-348A>T 886059310 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1895493 1895493 A T 298047 single nucleotide variant NM_133330.2(NSD2):c.-280T>G 886059311 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1893834 1893834 T G 298047 single nucleotide variant NM_133330.2(NSD2):c.-280T>G 886059311 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1895561 1895561 T G 298048 single nucleotide variant NM_133330.2(NSD2):c.-218T>G 544091833 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1893896 1893896 T G 298048 single nucleotide variant NM_133330.2(NSD2):c.-218T>G 544091833 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1895623 1895623 T G 298049 single nucleotide variant NM_133330.2(NSD2):c.*2917C>G 145672223 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1983553 1983553 C G 298049 single nucleotide variant NM_133330.2(NSD2):c.*2917C>G 145672223 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1981826 1981826 C G 298050 single nucleotide variant NM_133330.2(NSD2):c.11G>A (p.Ser4Asn) 753120179 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1902392 1902392 G A 298050 single nucleotide variant NM_133330.2(NSD2):c.11G>A (p.Ser4Asn) 753120179 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1900665 1900665 G A 298051 single nucleotide variant NM_133330.2(NSD2):c.228C>T (p.Ala76=) 74665455 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1902609 1902609 C T 298051 single nucleotide variant NM_133330.2(NSD2):c.228C>T (p.Ala76=) 74665455 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1900882 1900882 C T 298055 single nucleotide variant NM_133330.2(NSD2):c.576C>T (p.Ile192=) 138137147 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1902957 1902957 C T 298055 single nucleotide variant NM_133330.2(NSD2):c.576C>T (p.Ile192=) 138137147 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1901230 1901230 C T 298062 single nucleotide variant NM_133330.2(NSD2):c.927+15T>C 886059316 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1917052 1917052 T C 298062 single nucleotide variant NM_133330.2(NSD2):c.927+15T>C 886059316 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1918779 1918779 T C 298063 single nucleotide variant NM_133330.2(NSD2):c.940A>G (p.Ile314Val) 371529672 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1918153 1918153 A G 298063 single nucleotide variant NM_133330.2(NSD2):c.940A>G (p.Ile314Val) 371529672 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1919880 1919880 A G 298064 single nucleotide variant NM_133330.2(NSD2):c.1653G>A (p.Thr551=) 141132577 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1935241 1935241 G A 298064 single nucleotide variant NM_133330.2(NSD2):c.1653G>A (p.Thr551=) 141132577 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1936968 1936968 G A 298065 single nucleotide variant NM_133330.2(NSD2):c.1675-10T>A 886059317 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1938441 1938441 T A 298065 single nucleotide variant NM_133330.2(NSD2):c.1675-10T>A 886059317 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1940168 1940168 T A 298068 single nucleotide variant NM_133330.2(NSD2):c.1881+9A>T 767417151 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1939787 1939787 A T 298068 single nucleotide variant NM_133330.2(NSD2):c.1881+9A>T 767417151 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1941514 1941514 A T 298080 single nucleotide variant NM_133330.2(NSD2):c.1902C>T (p.Asp634=) 746926553 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1951092 1951092 C T 298080 single nucleotide variant NM_133330.2(NSD2):c.1902C>T (p.Asp634=) 746926553 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1952819 1952819 C T 298084 single nucleotide variant NM_133330.2(NSD2):c.2414T>C (p.Val805Ala) 144335923 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1955236 1955236 T C 298084 single nucleotide variant NM_133330.2(NSD2):c.2414T>C (p.Val805Ala) 144335923 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1956963 1956963 T C 298101 single nucleotide variant NM_133330.2(NSD2):c.3474C>T (p.Asp1158=) 138946638 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1974964 1974964 C T 298101 single nucleotide variant NM_133330.2(NSD2):c.3474C>T (p.Asp1158=) 138946638 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1976691 1976691 C T 298106 single nucleotide variant NM_133330.2(NSD2):c.4026C>G (p.Pro1342=) 147624398 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1978837 1978837 C G 298106 single nucleotide variant NM_133330.2(NSD2):c.4026C>G (p.Pro1342=) 147624398 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1980564 1980564 C G 298107 single nucleotide variant NM_133330.2(NSD2):c.*118G>A 886059320 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1979027 1979027 G A 298107 single nucleotide variant NM_133330.2(NSD2):c.*118G>A 886059320 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1980754 1980754 G A 298110 single nucleotide variant NM_133330.2(NSD2):c.*176C>T 187504628 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1979085 1979085 C T 298110 single nucleotide variant NM_133330.2(NSD2):c.*176C>T 187504628 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1980812 1980812 C T 298118 single nucleotide variant NM_133330.2(NSD2):c.*524G>A 112146288 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1981160 1981160 G A 298118 single nucleotide variant NM_133330.2(NSD2):c.*524G>A 112146288 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1979433 1979433 G A 298120 single nucleotide variant NM_133330.2(NSD2):c.*870A>C 117600071 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1981506 1981506 A C 298120 single nucleotide variant NM_133330.2(NSD2):c.*870A>C 117600071 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1979779 1979779 A C 298124 single nucleotide variant NM_133330.2(NSD2):c.*1297A>G 184511643 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1980206 1980206 A G 298124 single nucleotide variant NM_133330.2(NSD2):c.*1297A>G 184511643 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1981933 1981933 A G 298125 single nucleotide variant NM_133330.2(NSD2):c.*1572A>G 886059328 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1980481 1980481 A G 298125 single nucleotide variant NM_133330.2(NSD2):c.*1572A>G 886059328 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1982208 1982208 A G 298126 single nucleotide variant NM_133330.2(NSD2):c.*1757C>T 886059329 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1980666 1980666 C T 298126 single nucleotide variant NM_133330.2(NSD2):c.*1757C>T 886059329 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1982393 1982393 C T 298128 single nucleotide variant NM_133330.2(NSD2):c.*1777C>T 886059330 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1980686 1980686 C T 298128 single nucleotide variant NM_133330.2(NSD2):c.*1777C>T 886059330 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1982413 1982413 C T 298131 single nucleotide variant NM_133330.2(NSD2):c.*1844T>C 755058552 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1980753 1980753 T C 298131 single nucleotide variant NM_133330.2(NSD2):c.*1844T>C 755058552 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1982480 1982480 T C 298132 single nucleotide variant NM_133330.2(NSD2):c.*2020G>A 778656433 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1980929 1980929 G A 298132 single nucleotide variant NM_133330.2(NSD2):c.*2020G>A 778656433 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1982656 1982656 G A 298135 single nucleotide variant NM_133330.2(NSD2):c.*2521A>G 180696589 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1981430 1981430 A G 298135 single nucleotide variant NM_133330.2(NSD2):c.*2521A>G 180696589 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1983157 1983157 A G 298141 single nucleotide variant NM_133330.2(NSD2):c.*2603A>T 886059336 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1981512 1981512 A T 298141 single nucleotide variant NM_133330.2(NSD2):c.*2603A>T 886059336 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1983239 1983239 A T 298152 single nucleotide variant NM_133330.2(NSD2):c.*2811C>T 149980218 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1983447 1983447 C T 298152 single nucleotide variant NM_133330.2(NSD2):c.*2811C>T 149980218 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1981720 1981720 C T 298156 single nucleotide variant NM_133330.2(NSD2):c.*2812G>A 886059337 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1983448 1983448 G A 298156 single nucleotide variant NM_133330.2(NSD2):c.*2812G>A 886059337 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1981721 1981721 G A 298159 single nucleotide variant NM_133330.2(NSD2):c.*3186T>C 762277303 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1983822 1983822 T C 298159 single nucleotide variant NM_133330.2(NSD2):c.*3186T>C 762277303 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1982095 1982095 T C 298168 single nucleotide variant NM_133330.2(NSD2):c.*3199G>T 14647 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1983835 1983835 G T 298168 single nucleotide variant NM_133330.2(NSD2):c.*3199G>T 14647 MedGen:C1956097,OMIM:194190,Orphanet:ORPHA280,SNOMED CT:C1956097 4 1982108 1982108 G T

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 4 1901909 rs487903 T C rs487903 2.70E-05 Urinary metabolites HPOID:0000079 DOID:557 A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000109685.17 NSD2 602952